Publications:

The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia.

Frontiers In Genetics

Sarv, Siiri S; Kahre, Tiina T; Vaidla, Eve E; Pajusalu, Sander S; Muru, Kai K; Põder, Haide H; Gross-Paju, Katrin K; Ütt, Sandra S; Žordania, Riina R; Talvik, Inga I; Õiglane-Shlik, Eve E; Muhu, Kristina K; Õunap, Katrin K

Publication Date: 2021

Variant appearance in text: SMN1: 410dup

PubMed Link: 35003227

Variant Present in the following documents:

• Main text
• fgene-12-796862.pdf

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Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.

Molecular Genetics And Metabolism Reports

Puusepp, Sanna S; Reinson, Karit K; Pajusalu, Sander S; Murumets, Ülle Ü; Õiglane-Shlik, Eve E; Rein, Reet R; Talvik, Inga I; Rodenburg, Richard J RJ; Õunap, Katrin K

Publication Date: 2018-06

Variant appearance in text: SMN1: 410dup

PubMed Link: 30009132

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page